Document Detail

Neonatal hemochromatosis: a case report.
MedLine Citation:
PMID:  19363327     Owner:  NLM     Status:  MEDLINE    
Neonatal hemochromatosis is a rare disease of iron metabolism, characterized by the excess accumulation of iron in the tissues. This occurs in utero and can lead to fetal demise or an infant who presents with advanced liver disease in the neonatal period. A case of neonatal hemochromatosis is reported in a 37-week infant who presented at birth with thrombocytopenia, coagulopathy, and abnormal liver imaging studies. The diagnoses of infection and metabolic errors were excluded before the confirmation of neonatal hemochromatosis was made. This diagnosis was confirmed by elevated ferritin levels and extrahepatic siderosis excluding the reticuloendothelial system. Anti-oxidant therapy was initiated with N-acetyl cysteine, selenium, vitamins C and E and intravenous immunoglobulin. The infant demonstrated a positive response and was discharged home with outpatient follow up. The clinical presentation of neonatal hemochromatosis is reviewed as well as diagnosis and treatment strategies.
Lauree Pearson; Robin Bissinger; Kelly R Romero
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Advances in neonatal care : official journal of the National Association of Neonatal Nurses     Volume:  9     ISSN:  1536-0903     ISO Abbreviation:  Adv Neonatal Care     Publication Date:  2009 Apr 
Date Detail:
Created Date:  2009-04-13     Completed Date:  2009-05-19     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101125644     Medline TA:  Adv Neonatal Care     Country:  United States    
Other Details:
Languages:  eng     Pagination:  72-6     Citation Subset:  IM    
Perinatal Services and College of Nursing, Medical University of South Carolina, Charleston, USA.
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MeSH Terms
Antioxidants / administration & dosage
Diagnosis, Differential
Hemochromatosis / blood,  diagnosis*,  drug therapy,  nursing
Immunoglobulins, Intravenous / administration & dosage
Infant, Newborn
Intensive Care Units, Neonatal
Liver Failure, Acute / blood,  complications*,  diagnosis*
Pregnancy Complications / blood,  diagnosis
Treatment Outcome
alpha-Fetoproteins / analysis
Reg. No./Substance:
0/Antioxidants; 0/Immunoglobulins, Intravenous; 0/alpha-Fetoproteins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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